| GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. | GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Szalat A, Shpitzen S, Pollack R, Mazeh H, Durst R, Meiner V., Free PMC Article | 01/3/2024 |
| GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism. | GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A. | 07/23/2022 |
| Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. | Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L, Guarnieri V, Kim Y, Wong BYL, Nolin-Lapalme A, Cole DEC, Minisola S, Eller-Vainicher C, Cetani F, Repaci A, Turchetti D, Corbetta S, Scillitani A, Goltzman D., Free PMC Article | 02/12/2022 |
| GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3. | GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.
Singh P, Bhadada SK, Dahiya D, Saikia UN, Arya AK, Sachdeva N, Kaur J, Behera A, Brandi ML, Rao SD., Free PMC Article | 11/22/2021 |
| Five patients with disorders of calcium metabolism presented with GCM2 gene variants. | Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S., Free PMC Article | 11/13/2021 |
| Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients. | Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.
Song A, Yang Y, Wang Y, Liu S, Nie M, Jiang Y, Li M, Xia W, Wang O, Xing X. | 02/2/2021 |
| Activating GCM2 C-terminal conserved inhibitory domain (CCID) variants (p.V382M and p.Y394S) were identified in six of 396 adenomas (1.52%), and a hyperparathyroidism-associated GCM2 non-CCID activating variant (p.Y282D) was found in 20 adenomas (5.05%). The overall frequency of tested activating GCM2 variants in this study was 6.57%, approximately threefold greater than their frequency in the general population. | Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.
Riccardi A, Aspir T, Shen L, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Parham K, Carling T, Costa-Guda J, Arnold A. | 05/9/2020 |
| The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA). | Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.
Marchiori E, Pelizzo MR, Herten M, Townsend DM, Rubello D, Boschin IM., Free PMC Article | 04/7/2018 |
| GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure | Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E., Free PMC Article | 01/6/2018 |
| Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism. | GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK., Free PMC Article | 05/20/2017 |
| Gata3 interacted with Gcm2 and MafB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter. | Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.
Han SI, Tsunekage Y, Kataoka K. | 03/26/2016 |
| The higher frequency of GCM2 282D in primary hyperparathyroidismand enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis | Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.
D'Agruma L, Coco M, Guarnieri V, Battista C, Canaff L, Salcuni AS, Corbetta S, Cetani F, Minisola S, Chiodini I, Eller-Vainicher C, Spada A, Marcocci C, Guglielmi G, Zini M, Clemente R, Wong BY, de Martino D, Scillitani A, Hendy GN, Cole DE. | 10/10/2015 |
| we identified the genetic defect in 35% of hypoparathyroidism patients in our cohort and discovered novel GCM2 mutations including submicroscopic deletion that was undetectable by array comparative genomic hybridization | Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T. | 01/17/2015 |
| Four single nucleotide polymorphisms of GCMB gene were found in the GCMB gene (c.-44T > C [rs16870746], c.91-242A > G [rs9379881], c.343+163G > A [rs9393726], and c.583-72A > T [rs2076257]) in our cohort. | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S., Free PMC Article | 05/24/2014 |
| First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. | A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.
Doyle D, Kirwin SM, Sol-Church K, Levine MA., Free PMC Article | 01/26/2013 |
| Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB). | Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
Yi HS, Eom YS, Park IeB, Lee S, Hong S, Jüppner H, Mannstadt M, Lee S., Free PMC Article | 08/25/2012 |
| We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of primary hyperparathyroidism. | Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.
Mannstadt M, Holick E, Zhao W, Jüppner H., Free PMC Article | 09/17/2011 |
| These results indicate that GCMB and vitamin D receptor are involved in the positive and negative regulation of parathyroid hormone gene expression, respectively. | Involvement of GCMB in the transcriptional regulation of the human parathyroid hormone gene in a parathyroid-derived cell line PT-r: effects of calcium and 1,25(OH)2D3.
Kawahara M, Iwasaki Y, Sakaguchi K, Taguchi T, Nishiyama M, Nigawara T, Kambayashi M, Sawada T, Jing X, Miyajima M, Terada Y, Hashimoto K, Suda T. | 01/29/2011 |
| Gcm2 is a useful adjunct marker for the diagnosis of parathyroid lesions. | Study of parathyroid transcription factor Gcm2 expression in parathyroid lesions.
Nonaka D. | 01/15/2011 |
| Our results have identified the first dominant missense GCMB mutation and help to increase our understanding of the mechanism underlying gene transactivation that is a prerequisite for the function of this parathyroid gland-specific transcription factor. | A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV. | 08/2/2010 |
| These results expand the spectrum of hypoparathyroidism-associated GCMB mutations and help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor. | Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. | 07/26/2010 |
| significant association of R110W variant of GCM2 with isolated hypoparathyroidism | Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
Tomar N, Bora H, Singh R, Gupta N, Kaur P, Chauhan SS, Sharma YD, Goswami R, Tomar N, Bora H, Singh R, Gupta N, Kaur P, Chauhan SS, Sharma YD, Goswami R. | 02/22/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
Tomar N, Bora H, Singh R, Gupta N, Kaur P, Chauhan SS, Sharma YD, Goswami R, Tomar N, Bora H, Singh R, Gupta N, Kaur P, Chauhan SS, Sharma YD, Goswami R. | 01/20/2010 |
| one function of Gcm2 is to maintain high levels of CaR expression in parathyroid cells. | Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells.
Mizobuchi M, Ritter CS, Krits I, Slatopolsky E, Sicard G, Brown AJ., Free PMC Article | 01/21/2010 |
| Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene | Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN. | 01/21/2010 |